PEX11B peroxisomal biogenesis factor 11 beta

Information
Symbol
PEX11B
Type
protein-coding
Description
peroxisomal biogenesis factor 11 beta
Entrez Gene ID
8799
Genome
hg19
Position
chr1:145,516,372-145,523,730
Genome
hg38
Position
chr1:145,911,350-145,918,717
MIM
603867 OMIM
HGNC
HGNC:8853 HGNC
Ensembl
ENSG00000131779 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 14
Benign 0 12
Likely benign 0 164
Conflicting classifications of pathogenicity 0 16
not provided 4 0
Uncertain significance 0 236
Ranking
ClinVar
0
0
72
354
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM PEX11-BETA
SYNONYM PEX11beta
SYNONYM PEX14B
MIM 603867 OMIM
HGNC HGNC:8853 HGNC
Ensembl ENSG00000131779 Ensembl
AllianceGenome HGNC:8853
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369306.8 hg38 chr1 145,911,350 145,918,717 7,368
ENST00000537888.1 hg38 chr1 145,911,351 145,918,529 7,179
ENST00000369306.8 hg19 chr1 145,516,372 145,523,730 7,359
ENST00000537888.1 hg19 chr1 145,516,560 145,523,729 7,170
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